P94L (p.Pro94Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
P94L (p.Pro94Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs1687233615
- ClinGen CA349867508
- ClinVar RCV003758209
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.11
- MetaLR 0.51
- MetaSVM -0.01
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)